### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LPIN2) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "LPIN2" "lipin 2" "18" "p11.31" "unknown" "LRG_174" "UD_145628546305" "" "https://www.LOVD.nl/LPIN2" "" "1" "14450" "9663" "605519" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00006" "2021-10-27 16:17:19" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024760" "LPIN2" "lipin 2" "001" "NM_014646.2" "" "NP_055461.1" "" "" "" "-239" "5990" "2691" "3011945" "2916992" "00000" "2017-08-08 15:24:29" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00104005" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-135A" "00291940" "" "" "" "108" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291941" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291942" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291943" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291944" "" "" "" "139" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303519" "" "" "" "1" "" "00006" "{PMID:Gernez 2019:31271789}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat2" "00304623" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00104005" "03381" "00291940" "00198" "00291941" "00198" "00291942" "00198" "00291943" "00198" "00291944" "00198" "00303519" "00198" "00304623" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03381 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081939" "03381" "00104005" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000230596" "00198" "00303519" "00006" "Isolated (sporadic)" "22m" "see paper; ..., no structural brain anomalies; growth retardation; facial dysmorphism; no sensorineural deafness; no camptodactily; no hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; inflammation; Cytopenias, lymphadenopathy, hepatosplenomegaly, skin rash, recurrent fever, cholestasis, HLH" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104476" "00104005" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000293108" "00291940" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293109" "00291941" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293110" "00291942" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293111" "00291943" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293112" "00291944" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304647" "00303519" "1" "00006" "00006" "2020-06-15 17:08:24" "" "" "SEQ" "DNA" "" "" "0000305752" "00304623" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000304647" "CDC42" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 113 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000169310" "0" "70" "18" "2922129" "2922129" "subst" "0" "00587" "chr18_000224" "g.2922129A>G" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_014646.2(LPIN2):c.2243T>C p.(Leu748Pro)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.2922131A>G" "" "likely pathogenic" "" "0000250736" "0" "30" "18" "2934464" "2934464" "del" "0" "02326" "LPIN2_000018" "g.2934464del" "" "" "" "LPIN2(NM_014646.2):c.1169-7del (p.(=)), LPIN2(NM_014646.2):c.1169-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2934466del" "" "likely benign" "" "0000250809" "0" "30" "18" "2926779" "2926779" "subst" "0.00249291" "02326" "LPIN2_000013" "g.2926779A>G" "" "" "" "LPIN2(NM_001375808.2):c.1735T>C (p.(Ser579Pro)), LPIN2(NM_014646.2):c.1735T>C (p.S579P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2926781A>G" "" "likely benign" "" "0000250844" "0" "50" "18" "2954584" "2954584" "subst" "0" "02326" "LPIN2_000025" "g.2954584A>G" "" "" "" "LPIN2(NM_014646.2):c.206T>C (p.I69T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2954586A>G" "" "VUS" "" "0000251616" "0" "10" "18" "2922269" "2922269" "del" "0" "02326" "LPIN2_000008" "g.2922269del" "" "" "" "LPIN2(NM_014646.2):c.2175-63delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2922271del" "" "benign" "" "0000251617" "0" "10" "18" "2923865" "2923865" "subst" "4.06128E-6" "02326" "LPIN2_000010" "g.2923865A>G" "" "" "" "LPIN2(NM_014646.2):c.2088-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2923867A>G" "" "benign" "" "0000251618" "0" "10" "18" "2960525" "2960525" "del" "0" "02326" "LPIN2_000026" "g.2960525del" "" "" "" "LPIN2(NM_014646.2):c.192+134delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2960527del" "" "benign" "" "0000252307" "0" "30" "18" "2920631" "2920631" "subst" "0" "02326" "LPIN2_000003" "g.2920631A>G" "" "" "" "LPIN2(NM_014646.2):c.2546+145T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2920633A>G" "" "likely benign" "" "0000253088" "0" "10" "18" "2934464" "2934464" "del" "0" "01943" "LPIN2_000018" "g.2934464del" "" "" "" "LPIN2(NM_014646.2):c.1169-7del (p.(=)), LPIN2(NM_014646.2):c.1169-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2934466del" "" "benign" "" "0000254028" "0" "30" "18" "2926779" "2926779" "subst" "0.00249291" "01943" "LPIN2_000013" "g.2926779A>G" "" "" "" "LPIN2(NM_001375808.2):c.1735T>C (p.(Ser579Pro)), LPIN2(NM_014646.2):c.1735T>C (p.S579P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2926781A>G" "" "likely benign" "" "0000255786" "0" "50" "18" "2954584" "2954584" "subst" "0" "01943" "LPIN2_000025" "g.2954584A>G" "" "" "" "LPIN2(NM_014646.2):c.206T>C (p.I69T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2954586A>G" "" "VUS" "" "0000282280" "0" "10" "18" "2920288" "2920288" "subst" "0.314041" "02325" "LPIN2_000001" "g.2920288G>A" "" "" "" "LPIN2(NM_014646.2):c.*3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2920290G>A" "" "benign" "" "0000286018" "0" "30" "18" "2934451" "2934451" "subst" "0.000289981" "02326" "LPIN2_000017" "g.2934451G>A" "" "" "" "LPIN2(NM_014646.2):c.1169-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2934453G>A" "" "likely benign" "" "0000286019" "0" "10" "18" "2931225" "2931225" "subst" "0.0145045" "02326" "LPIN2_000016" "g.2931225T>C" "" "" "" "LPIN2(NM_014646.2):c.1456+29A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2931227T>C" "" "benign" "" "0000286020" "0" "30" "18" "2928573" "2928573" "del" "8.52868E-5" "02326" "LPIN2_000014" "g.2928573del" "" "" "" "LPIN2(NM_014646.2):c.1620+16delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2928575del" "" "likely benign" "" "0000286021" "0" "10" "18" "2925359" "2925359" "subst" "0.00888187" "02326" "LPIN2_000012" "g.2925359C>T" "" "" "" "LPIN2(NM_014646.2):c.1801G>A (p.(Glu601Lys), p.E601K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2925361C>T" "" "benign" "" "0000286022" "0" "10" "18" "2925293" "2925293" "subst" "0.00198969" "02326" "LPIN2_000011" "g.2925293G>A" "" "" "" "LPIN2(NM_014646.2):c.1867C>T (p.P623S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2925295G>A" "" "benign" "" "0000286024" "0" "30" "18" "2922034" "2922034" "subst" "0.000631161" "02326" "LPIN2_000006" "g.2922034C>T" "" "" "" "LPIN2(NM_014646.2):c.2327+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2922036C>T" "" "likely benign" "" "0000286025" "0" "30" "18" "2921658" "2921658" "subst" "0.000211833" "02326" "LPIN2_000005" "g.2921658T>A" "" "" "" "LPIN2(NM_014646.2):c.2328-13A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2921660T>A" "" "likely benign" "" "0000286026" "0" "10" "18" "2921016" "2921016" "subst" "0" "02326" "LPIN2_000004" "g.2921016C>A" "" "" "" "LPIN2(NM_014646.2):c.2443-137G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2921018C>A" "" "benign" "" "0000286027" "0" "30" "18" "2920311" "2920311" "subst" "0.000337185" "02326" "LPIN2_000002" "g.2920311C>T" "" "" "" "LPIN2(NM_014646.2):c.2671G>A (p.D891N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2920313C>T" "" "likely benign" "" "0000286028" "0" "50" "18" "2940651" "2940651" "subst" "0" "02326" "LPIN2_000023" "g.2940651G>A" "" "" "" "LPIN2(NM_014646.2):c.650C>T (p.S217F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2940653G>A" "" "VUS" "" "0000286029" "0" "30" "18" "2940583" "2940585" "del" "0" "02326" "LPIN2_000022" "g.2940583_2940585del" "" "" "" "LPIN2(NM_014646.2):c.698+20_698+22delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2940585_2940587del" "" "likely benign" "" "0000286030" "0" "30" "18" "2937867" "2937867" "subst" "0.00156964" "02326" "LPIN2_000021" "g.2937867C>A" "" "" "" "LPIN2(NM_014646.2):c.991G>T (p.A331S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2937869C>A" "" "likely benign" "" "0000291080" "0" "30" "18" "2937815" "2937815" "subst" "0.00134434" "01943" "LPIN2_000020" "g.2937815G>A" "" "" "" "LPIN2(NM_014646.2):c.1043C>T (p.P348L, p.(Pro348Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2937817G>A" "" "likely benign" "" "0000291081" "0" "30" "18" "2929103" "2929103" "subst" "0.00261693" "01943" "LPIN2_000015" "g.2929103G>A" "" "" "" "LPIN2(NM_001375808.2):c.1510C>T (p.(Leu504Phe)), LPIN2(NM_014646.2):c.1510C>T (p.L504F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2929105G>A" "" "likely benign" "" "0000291082" "0" "50" "18" "2923763" "2923763" "subst" "3.24855E-5" "01943" "LPIN2_000009" "g.2923763G>A" "" "" "" "LPIN2(NM_014646.2):c.2174+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2923765G>A" "" "VUS" "" "0000291083" "0" "30" "18" "2920311" "2920311" "subst" "0.000337185" "01943" "LPIN2_000002" "g.2920311C>T" "" "" "" "LPIN2(NM_014646.2):c.2671G>A (p.D891N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2920313C>T" "" "likely benign" "" "0000291084" "0" "30" "18" "2940659" "2940659" "subst" "0" "01943" "LPIN2_000024" "g.2940659G>C" "" "" "" "LPIN2(NM_014646.2):c.642C>G (p.L214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2940661G>C" "" "likely benign" "" "0000325793" "0" "50" "18" "2937699" "2937699" "subst" "0.00394319" "01804" "LPIN2_000019" "g.2937699T>C" "" "" "" "LPIN2(NM_014646.2):c.1159A>G (p.(Lys387Glu), p.K387E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2937701T>C" "" "VUS" "" "0000564631" "0" "30" "18" "2920357" "2920357" "subst" "0.000483512" "01943" "LPIN2_000027" "g.2920357C>T" "" "" "" "LPIN2(NM_014646.2):c.2625G>A (p.P875=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2920359C>T" "" "likely benign" "" "0000564632" "0" "50" "18" "2920358" "2920358" "subst" "3.65705E-5" "02325" "LPIN2_000028" "g.2920358G>A" "" "" "" "LPIN2(NM_014646.2):c.2624C>T (p.P875L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2920360G>A" "" "VUS" "" "0000564633" "0" "10" "18" "2922056" "2922056" "subst" "0.000181221" "02326" "LPIN2_000029" "g.2922056G>A" "" "" "" "LPIN2(NM_014646.2):c.2316C>T (p.S772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2922058G>A" "" "benign" "" "0000564634" "0" "50" "18" "2922148" "2922148" "subst" "1.6279E-5" "02325" "LPIN2_000030" "g.2922148C>T" "" "" "" "LPIN2(NM_014646.2):c.2224G>A (p.D742N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2922150C>T" "" "VUS" "" "0000564635" "0" "30" "18" "2922246" "2922246" "dup" "0" "02326" "LPIN2_000031" "g.2922246dup" "" "" "" "LPIN2(NM_014646.2):c.2175-46dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2922248dup" "" "likely benign" "" "0000564636" "0" "30" "18" "2925273" "2925273" "subst" "3.65453E-5" "02326" "LPIN2_000032" "g.2925273G>A" "" "" "" "LPIN2(NM_014646.2):c.1887C>T (p.H629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2925275G>A" "" "likely benign" "" "0000564637" "0" "30" "18" "2925359" "2925359" "subst" "0.00888187" "01804" "LPIN2_000012" "g.2925359C>T" "" "" "" "LPIN2(NM_014646.2):c.1801G>A (p.(Glu601Lys), p.E601K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2925361C>T" "" "likely benign" "" "0000564638" "0" "30" "18" "2926756" "2926756" "subst" "0" "02326" "LPIN2_000033" "g.2926756G>A" "" "" "" "LPIN2(NM_014646.2):c.1758C>T (p.D586=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2926758G>A" "" "likely benign" "" "0000564639" "0" "30" "18" "2927829" "2927829" "subst" "0" "02326" "LPIN2_000034" "g.2927829G>A" "" "" "" "LPIN2(NM_014646.2):c.1621-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2927831G>A" "" "likely benign" "" "0000564640" "0" "50" "18" "2929099" "2929099" "subst" "0.00017068" "01943" "LPIN2_000035" "g.2929099A>G" "" "" "" "LPIN2(NM_014646.2):c.1514T>C (p.I505T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2929101A>G" "" "VUS" "" "0000564641" "0" "30" "18" "2929128" "2929128" "subst" "2.43847E-5" "02326" "LPIN2_000036" "g.2929128A>G" "" "" "" "LPIN2(NM_014646.2):c.1485T>C (p.Y495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2929130A>G" "" "likely benign" "" "0000564642" "0" "30" "18" "2934451" "2934451" "subst" "0.000289981" "01943" "LPIN2_000017" "g.2934451G>A" "" "" "" "LPIN2(NM_014646.2):c.1169-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2934453G>A" "" "likely benign" "" "0000564643" "0" "30" "18" "2934464" "2934464" "del" "0" "01804" "LPIN2_000018" "g.2934464del" "" "" "" "LPIN2(NM_014646.2):c.1169-7del (p.(=)), LPIN2(NM_014646.2):c.1169-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2934466del" "" "likely benign" "" "0000564644" "0" "30" "18" "2937683" "2937683" "subst" "0" "02326" "LPIN2_000037" "g.2937683C>T" "" "" "" "LPIN2(NM_014646.2):c.1168+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2937685C>T" "" "likely benign" "" "0000564645" "0" "30" "18" "2937699" "2937699" "subst" "0.00394319" "02326" "LPIN2_000019" "g.2937699T>C" "" "" "" "LPIN2(NM_014646.2):c.1159A>G (p.(Lys387Glu), p.K387E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2937701T>C" "" "likely benign" "" "0000564646" "0" "30" "18" "2937815" "2937815" "subst" "0.00134434" "01804" "LPIN2_000020" "g.2937815G>A" "" "" "" "LPIN2(NM_014646.2):c.1043C>T (p.P348L, p.(Pro348Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2937817G>A" "" "likely benign" "" "0000564647" "0" "30" "18" "2937815" "2937815" "subst" "0.00134434" "02326" "LPIN2_000020" "g.2937815G>A" "" "" "" "LPIN2(NM_014646.2):c.1043C>T (p.P348L, p.(Pro348Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2937817G>A" "" "likely benign" "" "0000564648" "0" "30" "18" "2937867" "2937867" "subst" "0.00156964" "02325" "LPIN2_000021" "g.2937867C>A" "" "" "" "LPIN2(NM_014646.2):c.991G>T (p.A331S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2937869C>A" "" "likely benign" "" "0000564653" "0" "30" "18" "2951290" "2951290" "subst" "6.90984E-5" "01943" "LPIN2_000039" "g.2951290A>G" "" "" "" "LPIN2(NM_014646.2):c.353T>C (p.I118T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2951292A>G" "" "likely benign" "" "0000617091" "0" "30" "18" "2920820" "2920820" "subst" "0" "01943" "LPIN2_000040" "g.2920820G>C" "" "" "" "LPIN2(NM_014646.2):c.2502C>G (p.P834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2920822G>C" "" "likely benign" "" "0000617092" "0" "30" "18" "2925284" "2925284" "subst" "0.00266383" "01804" "LPIN2_000041" "g.2925284G>A" "" "" "" "LPIN2(NM_014646.2):c.1876C>T (p.(Pro626Ser), p.P626S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2925286G>A" "" "likely benign" "" "0000617093" "0" "50" "18" "2951197" "2951197" "subst" "0.000500089" "01943" "LPIN2_000045" "g.2951197G>A" "" "" "" "LPIN2(NM_014646.2):c.446C>T (p.P149L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2951199G>A" "" "VUS" "" "0000623838" "0" "30" "18" "2926704" "2926704" "subst" "0.000103236" "02326" "LPIN2_000042" "g.2926704G>A" "" "" "" "LPIN2(NM_014646.2):c.1793+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2926706G>A" "" "likely benign" "" "0000623839" "0" "30" "18" "2937684" "2937684" "subst" "0.000293274" "01943" "LPIN2_000043" "g.2937684G>A" "" "" "" "LPIN2(NM_014646.2):c.1168+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2937686G>A" "" "likely benign" "" "0000623840" "0" "30" "18" "2940729" "2940729" "subst" "1.24111E-5" "02326" "LPIN2_000044" "g.2940729A>C" "" "" "" "LPIN2(NM_014646.2):c.591-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2940731A>C" "" "likely benign" "" "0000649797" "1" "30" "18" "2920192" "2920192" "subst" "0" "03575" "LPIN2_000046" "g.2920192G>A" "108/2777 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "108 heterozygous, no homozygous; {DB:CLININrs143728428}" "Germline" "" "rs143728428" "0" "" "" "g.2920194G>A" "" "likely benign" "" "0000649798" "1" "50" "18" "2922149" "2922149" "subst" "0.0113274" "03575" "LPIN2_000047" "g.2922149G>A" "15/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 15 heterozygous, no homozygous; {DB:CLININrs17555442}" "Germline" "" "rs17555442" "0" "" "" "g.2922151G>A" "" "VUS" "" "0000649799" "1" "50" "18" "2929103" "2929103" "subst" "0.00261693" "03575" "LPIN2_000015" "g.2929103G>A" "17/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 17 heterozygous, no homozygous; {DB:CLININrs104895500}" "Germline" "" "rs104895500" "0" "" "" "g.2929105G>A" "" "VUS" "" "0000649800" "1" "50" "18" "2929124" "2929124" "subst" "0.000345436" "03575" "LPIN2_000048" "g.2929124C>T" "16/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs201325845}" "Germline" "" "rs201325845" "0" "" "" "g.2929126C>T" "" "VUS" "" "0000649801" "1" "30" "18" "2937699" "2937699" "subst" "0.00394319" "03575" "LPIN2_000019" "g.2937699T>C" "139/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "139 heterozygous; {DB:CLININrs104895501}" "Germline" "" "rs104895501" "0" "" "" "g.2937701T>C" "" "likely benign" "" "0000658350" "0" "30" "18" "2920357" "2920357" "subst" "0.000483512" "01804" "LPIN2_000027" "g.2920357C>T" "" "" "" "LPIN2(NM_014646.2):c.2625G>A (p.P875=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2920359C>T" "" "likely benign" "" "0000658351" "0" "30" "18" "2922056" "2922056" "subst" "0.000181221" "01943" "LPIN2_000029" "g.2922056G>A" "" "" "" "LPIN2(NM_014646.2):c.2316C>T (p.S772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2922058G>A" "" "likely benign" "" "0000658352" "0" "30" "18" "2940693" "2940693" "subst" "0.00381081" "02326" "LPIN2_000049" "g.2940693G>A" "" "" "" "LPIN2(NM_014646.2):c.608C>T (p.S203F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2940695G>A" "" "likely benign" "" "0000668146" "0" "70" "18" "2951197" "2951197" "subst" "0.000500089" "00006" "LPIN2_000045" "g.2951197G>A" "" "{PMID:Gernez 2019:31271789}" "" "" "" "Germline" "" "" "0" "" "" "g.2951199G>A" "" "likely pathogenic" "" "0000669440" "3" "30" "18" "2937699" "2937699" "subst" "0.00394319" "03575" "LPIN2_000019" "g.2937699T>C" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs104895501}" "Germline" "" "rs104895501" "0" "" "" "g.2937701T>C" "" "likely benign" "" "0000681130" "0" "30" "18" "2925284" "2925284" "subst" "0.00266383" "02326" "LPIN2_000041" "g.2925284G>A" "" "" "" "LPIN2(NM_014646.2):c.1876C>T (p.(Pro626Ser), p.P626S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692575" "0" "10" "18" "2920288" "2920288" "subst" "0.314041" "02327" "LPIN2_000001" "g.2920288G>A" "" "" "" "LPIN2(NM_014646.2):c.*3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692576" "0" "30" "18" "2920324" "2920324" "subst" "2.84379E-5" "01943" "LPIN2_000050" "g.2920324C>T" "" "" "" "LPIN2(NM_014646.2):c.2658G>A (p.P886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692577" "0" "50" "18" "2920361" "2920361" "subst" "0.00136937" "01943" "LPIN2_000051" "g.2920361C>A" "" "" "" "LPIN2(NM_014646.2):c.2621G>T (p.C874F, p.(Cys874Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692578" "0" "50" "18" "2927767" "2927767" "subst" "1.21818E-5" "02325" "LPIN2_000052" "g.2927767A>C" "" "" "" "LPIN2(NM_014646.2):c.1663T>G (p.S555A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692579" "0" "30" "18" "2937726" "2937726" "subst" "0.000166506" "01943" "LPIN2_000053" "g.2937726G>A" "" "" "" "LPIN2(NM_014646.2):c.1132C>T (p.P378S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692580" "0" "30" "18" "2940603" "2940603" "subst" "9.3853E-5" "01943" "LPIN2_000054" "g.2940603G>A" "" "" "" "LPIN2(NM_014646.2):c.698C>T (p.T233I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726860" "0" "30" "18" "2920372" "2920372" "subst" "0.000414547" "01943" "LPIN2_000055" "g.2920372G>A" "" "" "" "LPIN2(NM_014646.2):c.2610C>T (p.S870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726861" "0" "30" "18" "2951047" "2951047" "subst" "0.00121252" "01804" "LPIN2_000056" "g.2951047T>C" "" "" "" "LPIN2(NM_014646.2):c.590+6A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726862" "0" "50" "18" "2960835" "2960835" "subst" "0" "02325" "LPIN2_000057" "g.2960835T>C" "" "" "" "LPIN2(NM_014646.2):c.4A>G (p.N2D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808456" "0" "50" "18" "2923776" "2923776" "subst" "6.49704E-5" "02325" "LPIN2_000058" "g.2923776T>C" "" "" "" "LPIN2(NM_014646.2):c.2171A>G (p.N724S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808457" "0" "50" "18" "2924558" "2924558" "subst" "0.000150267" "02327" "LPIN2_000059" "g.2924558A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808458" "0" "30" "18" "2925272" "2925272" "subst" "0.000158367" "01804" "LPIN2_000060" "g.2925272C>T" "" "" "" "LPIN2(NM_014646.2):c.1888G>A (p.(Gly630Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808459" "0" "30" "18" "2926779" "2926779" "subst" "0.00249291" "01804" "LPIN2_000013" "g.2926779A>G" "" "" "" "LPIN2(NM_001375808.2):c.1735T>C (p.(Ser579Pro)), LPIN2(NM_014646.2):c.1735T>C (p.S579P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808460" "0" "30" "18" "2951197" "2951197" "subst" "0.000500089" "02325" "LPIN2_000045" "g.2951197G>A" "" "" "" "LPIN2(NM_014646.2):c.446C>T (p.P149L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855261" "0" "50" "18" "2925253" "2925253" "subst" "0" "02325" "LPIN2_000062" "g.2925253T>A" "" "" "" "LPIN2(NM_014646.2):c.1907A>T (p.K636M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855262" "0" "30" "18" "2937684" "2937684" "subst" "0.000293274" "02326" "LPIN2_000043" "g.2937684G>A" "" "" "" "LPIN2(NM_014646.2):c.1168+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865657" "0" "50" "18" "2920361" "2920361" "subst" "4.06342E-6" "01804" "LPIN2_000061" "g.2920361C>T" "" "" "" "LPIN2(NM_014646.2):c.2621G>A (p.(Cys874Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865658" "0" "30" "18" "2922149" "2922149" "subst" "0.0113274" "01804" "LPIN2_000047" "g.2922149G>A" "" "" "" "LPIN2(NM_001375808.2):c.2223C>T (p.(Ala741=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865659" "0" "30" "18" "2929103" "2929103" "subst" "0.00261693" "02325" "LPIN2_000015" "g.2929103G>A" "" "" "" "LPIN2(NM_001375808.2):c.1510C>T (p.(Leu504Phe)), LPIN2(NM_014646.2):c.1510C>T (p.L504F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865660" "0" "30" "18" "2934464" "2934464" "dup" "0" "01804" "LPIN2_000063" "g.2934464dup" "" "" "" "LPIN2(NM_014646.2):c.1169-7dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865661" "0" "30" "18" "2937749" "2937749" "subst" "6.9035E-5" "01943" "LPIN2_000064" "g.2937749G>A" "" "" "" "LPIN2(NM_014646.2):c.1109C>T (p.A370V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865662" "0" "70" "18" "2951213" "2951214" "del" "0" "01804" "LPIN2_000065" "g.2951213_2951214del" "" "" "" "LPIN2(NM_014646.2):c.432_433del (p.(Glu144Aspfs*23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894501" "0" "30" "18" "2920361" "2920361" "subst" "0.00136937" "01804" "LPIN2_000051" "g.2920361C>A" "" "" "" "LPIN2(NM_014646.2):c.2621G>T (p.C874F, p.(Cys874Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894502" "0" "50" "18" "2920830" "2920830" "subst" "0" "02325" "LPIN2_000066" "g.2920830G>A" "" "" "" "LPIN2(NM_014646.2):c.2492C>T (p.T831I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894503" "0" "30" "18" "2920883" "2920883" "subst" "2.03075E-5" "02326" "LPIN2_000067" "g.2920883C>T" "" "" "" "LPIN2(NM_014646.2):c.2443-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894504" "0" "30" "18" "2929103" "2929103" "subst" "0.00261693" "01804" "LPIN2_000015" "g.2929103G>A" "" "" "" "LPIN2(NM_001375808.2):c.1510C>T (p.(Leu504Phe)), LPIN2(NM_014646.2):c.1510C>T (p.L504F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894505" "0" "50" "18" "2937974" "2937974" "subst" "8.19618E-6" "02325" "LPIN2_000068" "g.2937974T>C" "" "" "" "LPIN2(NM_014646.2):c.884A>G (p.N295S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894506" "0" "30" "18" "2951197" "2951197" "subst" "0.000500089" "02326" "LPIN2_000045" "g.2951197G>A" "" "" "" "LPIN2(NM_014646.2):c.446C>T (p.P149L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894507" "0" "30" "18" "2954510" "2954510" "subst" "4.06405E-6" "02326" "LPIN2_000069" "g.2954510C>T" "" "" "" "LPIN2(NM_014646.2):c.280G>A (p.E94K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894508" "0" "50" "18" "2960748" "2960748" "subst" "0" "01804" "LPIN2_000070" "g.2960748T>G" "" "" "" "LPIN2(NM_014646.2):c.91A>C (p.(Ile31Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926721" "0" "30" "18" "2923869" "2923869" "subst" "1.62464E-5" "02326" "LPIN2_000071" "g.2923869C>T" "" "" "" "LPIN2(NM_014646.2):c.2088-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926722" "0" "10" "18" "2951047" "2951047" "subst" "0.00121252" "02326" "LPIN2_000056" "g.2951047T>C" "" "" "" "LPIN2(NM_014646.2):c.590+6A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926723" "0" "30" "18" "2951284" "2951284" "subst" "2.84541E-5" "02326" "LPIN2_000072" "g.2951284G>T" "" "" "" "LPIN2(NM_014646.2):c.359C>A (p.T120N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926724" "0" "30" "18" "2960630" "2960630" "subst" "0" "02326" "LPIN2_000073" "g.2960630T>C" "" "" "" "LPIN2(NM_014646.2):c.192+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930947" "0" "30" "18" "2951208" "2951208" "subst" "0" "02326" "LPIN2_000074" "g.2951208T>C" "" "" "" "LPIN2(NM_014646.2):c.435A>G (p.T145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930948" "0" "30" "18" "2960692" "2960692" "subst" "0.00173064" "02326" "LPIN2_000075" "g.2960692G>A" "" "" "" "LPIN2(NM_014646.2):c.147C>T (p.H49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951117" "0" "30" "18" "2921514" "2921514" "subst" "0" "02326" "LPIN2_000076" "g.2921514G>A" "" "" "" "LPIN2(NM_014646.2):c.2442+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951118" "0" "50" "18" "2929103" "2929103" "subst" "0.00261693" "02326" "LPIN2_000015" "g.2929103G>A" "" "" "" "LPIN2(NM_001375808.2):c.1510C>T (p.(Leu504Phe)), LPIN2(NM_014646.2):c.1510C>T (p.L504F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951119" "0" "30" "18" "2938020" "2938020" "subst" "1.23117E-5" "02326" "LPIN2_000077" "g.2938020G>T" "" "" "" "LPIN2(NM_014646.2):c.838C>A (p.R280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969375" "0" "30" "18" "2924549" "2924549" "del" "0" "02325" "LPIN2_000078" "g.2924549del" "" "" "" "LPIN2(NM_014646.2):c.1939-2delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969376" "0" "30" "18" "2960644" "2960644" "subst" "2.03102E-5" "02326" "LPIN2_000079" "g.2960644C>T" "" "" "" "LPIN2(NM_014646.2):c.192+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042399" "0" "30" "18" "2920888" "2920888" "subst" "0.000369639" "01804" "LPIN2_000080" "g.2920888G>A" "" "" "" "LPIN2(NM_001375808.2):c.2443-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042400" "0" "50" "18" "2922055" "2922055" "subst" "0" "01804" "LPIN2_000081" "g.2922055C>T" "" "" "" "LPIN2(NM_001375808.2):c.2317G>A (p.(Ala773Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042401" "0" "50" "18" "2931283" "2931283" "subst" "4.06204E-6" "01804" "LPIN2_000082" "g.2931283C>T" "" "" "" "LPIN2(NM_001375808.2):c.1427G>A (p.(Gly476Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042402" "0" "50" "18" "2940685" "2940687" "del" "0" "01804" "LPIN2_000083" "g.2940685_2940687del" "" "" "" "LPIN2(NM_001375808.2):c.622_624del (p.(Glu208del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056253" "0" "50" "18" "2923868" "2923870" "del" "0" "01804" "LPIN2_000084" "g.2923868_2923870del" "" "" "" "LPIN2(NM_001375808.2):c.2088-10_2088-8del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066915" "0" "30" "18" "2920311" "2920311" "subst" "0.000337185" "02325" "LPIN2_000002" "g.2920311C>T" "" "" "" "LPIN2(NM_014646.2):c.2671G>A (p.D891N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes LPIN2 ## Count = 113 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000169310" "00024760" "00" "2243" "0" "2243" "0" "c.2243T>C" "r.(?)" "p.(Leu748Pro)" "" "0000250736" "00024760" "30" "1169" "-7" "1169" "-7" "c.1169-7del" "r.(=)" "p.(=)" "" "0000250809" "00024760" "30" "1735" "0" "1735" "0" "c.1735T>C" "r.(?)" "p.(Ser579Pro)" "" "0000250844" "00024760" "50" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Ile69Thr)" "" "0000251616" "00024760" "10" "2175" "-63" "2175" "-63" "c.2175-63del" "r.(=)" "p.(=)" "" "0000251617" "00024760" "10" "2088" "-6" "2088" "-6" "c.2088-6T>C" "r.(=)" "p.(=)" "" "0000251618" "00024760" "10" "192" "134" "192" "134" "c.192+134del" "r.(=)" "p.(=)" "" "0000252307" "00024760" "30" "2546" "145" "2546" "145" "c.2546+145T>C" "r.(=)" "p.(=)" "" "0000253088" "00024760" "10" "1169" "-7" "1169" "-7" "c.1169-7del" "r.(=)" "p.(=)" "" "0000254028" "00024760" "30" "1735" "0" "1735" "0" "c.1735T>C" "r.(?)" "p.(Ser579Pro)" "" "0000255786" "00024760" "50" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Ile69Thr)" "" "0000282280" "00024760" "10" "2694" "0" "2694" "0" "c.*3C>T" "r.(=)" "p.(=)" "" "0000286018" "00024760" "30" "1169" "-3" "1169" "-3" "c.1169-3C>T" "r.spl?" "p.?" "" "0000286019" "00024760" "10" "1456" "29" "1456" "29" "c.1456+29A>G" "r.(=)" "p.(=)" "" "0000286020" "00024760" "30" "1620" "16" "1620" "16" "c.1620+16del" "r.(=)" "p.(=)" "" "0000286021" "00024760" "10" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Glu601Lys)" "" "0000286022" "00024760" "10" "1867" "0" "1867" "0" "c.1867C>T" "r.(?)" "p.(Pro623Ser)" "" "0000286024" "00024760" "30" "2327" "11" "2327" "11" "c.2327+11G>A" "r.(=)" "p.(=)" "" "0000286025" "00024760" "30" "2328" "-13" "2328" "-13" "c.2328-13A>T" "r.(=)" "p.(=)" "" "0000286026" "00024760" "10" "2443" "-137" "2443" "-137" "c.2443-137G>T" "r.(=)" "p.(=)" "" "0000286027" "00024760" "30" "2671" "0" "2671" "0" "c.2671G>A" "r.(?)" "p.(Asp891Asn)" "" "0000286028" "00024760" "50" "650" "0" "650" "0" "c.650C>T" "r.(?)" "p.(Ser217Phe)" "" "0000286029" "00024760" "30" "698" "20" "698" "22" "c.698+20_698+22del" "r.(=)" "p.(=)" "" "0000286030" "00024760" "30" "991" "0" "991" "0" "c.991G>T" "r.(?)" "p.(Ala331Ser)" "" "0000291080" "00024760" "30" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Pro348Leu)" "" "0000291081" "00024760" "30" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Leu504Phe)" "" "0000291082" "00024760" "50" "2174" "10" "2174" "10" "c.2174+10C>T" "r.(=)" "p.(=)" "" "0000291083" "00024760" "30" "2671" "0" "2671" "0" "c.2671G>A" "r.(?)" "p.(Asp891Asn)" "" "0000291084" "00024760" "30" "642" "0" "642" "0" "c.642C>G" "r.(?)" "p.(Leu214=)" "" "0000325793" "00024760" "50" "1159" "0" "1159" "0" "c.1159A>G" "r.(?)" "p.(Lys387Glu)" "" "0000564631" "00024760" "30" "2625" "0" "2625" "0" "c.2625G>A" "r.(?)" "p.(Pro875=)" "" "0000564632" "00024760" "50" "2624" "0" "2624" "0" "c.2624C>T" "r.(?)" "p.(Pro875Leu)" "" "0000564633" "00024760" "10" "2316" "0" "2316" "0" "c.2316C>T" "r.(?)" "p.(Ser772=)" "" "0000564634" "00024760" "50" "2224" "0" "2224" "0" "c.2224G>A" "r.(?)" "p.(Asp742Asn)" "" "0000564635" "00024760" "30" "2175" "-46" "2175" "-46" "c.2175-46dup" "r.(=)" "p.(=)" "" "0000564636" "00024760" "30" "1887" "0" "1887" "0" "c.1887C>T" "r.(?)" "p.(His629=)" "" "0000564637" "00024760" "30" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Glu601Lys)" "" "0000564638" "00024760" "30" "1758" "0" "1758" "0" "c.1758C>T" "r.(?)" "p.(Asp586=)" "" "0000564639" "00024760" "30" "1621" "-20" "1621" "-20" "c.1621-20C>T" "r.(=)" "p.(=)" "" "0000564640" "00024760" "50" "1514" "0" "1514" "0" "c.1514T>C" "r.(?)" "p.(Ile505Thr)" "" "0000564641" "00024760" "30" "1485" "0" "1485" "0" "c.1485T>C" "r.(?)" "p.(Tyr495=)" "" "0000564642" "00024760" "30" "1169" "-3" "1169" "-3" "c.1169-3C>T" "r.spl?" "p.?" "" "0000564643" "00024760" "30" "1169" "-7" "1169" "-7" "c.1169-7del" "r.(=)" "p.(=)" "" "0000564644" "00024760" "30" "1168" "7" "1168" "7" "c.1168+7G>A" "r.(=)" "p.(=)" "" "0000564645" "00024760" "30" "1159" "0" "1159" "0" "c.1159A>G" "r.(?)" "p.(Lys387Glu)" "" "0000564646" "00024760" "30" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Pro348Leu)" "" "0000564647" "00024760" "30" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Pro348Leu)" "" "0000564648" "00024760" "30" "991" "0" "991" "0" "c.991G>T" "r.(?)" "p.(Ala331Ser)" "" "0000564653" "00024760" "30" "353" "0" "353" "0" "c.353T>C" "r.(?)" "p.(Ile118Thr)" "" "0000617091" "00024760" "30" "2502" "0" "2502" "0" "c.2502C>G" "r.(?)" "p.(Pro834=)" "" "0000617092" "00024760" "30" "1876" "0" "1876" "0" "c.1876C>T" "r.(?)" "p.(Pro626Ser)" "" "0000617093" "00024760" "50" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Pro149Leu)" "" "0000623838" "00024760" "30" "1793" "17" "1793" "17" "c.1793+17C>T" "r.(=)" "p.(=)" "" "0000623839" "00024760" "30" "1168" "6" "1168" "6" "c.1168+6C>T" "r.(=)" "p.(=)" "" "0000623840" "00024760" "30" "591" "-19" "591" "-19" "c.591-19T>G" "r.(=)" "p.(=)" "" "0000649797" "00024760" "30" "2790" "0" "2790" "0" "c.*99C>T" "r.(=)" "p.(=)" "" "0000649798" "00024760" "50" "2223" "0" "2223" "0" "c.2223C>T" "r.(=)" "p.(=)" "" "0000649799" "00024760" "50" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Leu504Phe)" "" "0000649800" "00024760" "50" "1489" "0" "1489" "0" "c.1489G>A" "r.(?)" "p.(Glu497Lys)" "" "0000649801" "00024760" "30" "1159" "0" "1159" "0" "c.1159A>G" "r.(?)" "p.(Lys387Glu)" "" "0000658350" "00024760" "30" "2625" "0" "2625" "0" "c.2625G>A" "r.(?)" "p.(Pro875=)" "" "0000658351" "00024760" "30" "2316" "0" "2316" "0" "c.2316C>T" "r.(?)" "p.(Ser772=)" "" "0000658352" "00024760" "30" "608" "0" "608" "0" "c.608C>T" "r.(?)" "p.(Ser203Phe)" "" "0000668146" "00024760" "70" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Pro149Leu)" "" "0000669440" "00024760" "30" "1159" "0" "1159" "0" "c.1159A>G" "r.(?)" "p.(Lys387Glu)" "" "0000681130" "00024760" "30" "1876" "0" "1876" "0" "c.1876C>T" "r.(?)" "p.(Pro626Ser)" "" "0000692575" "00024760" "10" "2694" "0" "2694" "0" "c.*3C>T" "r.(=)" "p.(=)" "" "0000692576" "00024760" "30" "2658" "0" "2658" "0" "c.2658G>A" "r.(?)" "p.(Pro886=)" "" "0000692577" "00024760" "50" "2621" "0" "2621" "0" "c.2621G>T" "r.(?)" "p.(Cys874Phe)" "" "0000692578" "00024760" "50" "1663" "0" "1663" "0" "c.1663T>G" "r.(?)" "p.(Ser555Ala)" "" "0000692579" "00024760" "30" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Pro378Ser)" "" "0000692580" "00024760" "30" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Ile)" "" "0000726860" "00024760" "30" "2610" "0" "2610" "0" "c.2610C>T" "r.(?)" "p.(Ser870=)" "" "0000726861" "00024760" "30" "590" "6" "590" "6" "c.590+6A>G" "r.(=)" "p.(=)" "" "0000726862" "00024760" "50" "4" "0" "4" "0" "c.4A>G" "r.(?)" "p.(Asn2Asp)" "" "0000808456" "00024760" "50" "2171" "0" "2171" "0" "c.2171A>G" "r.(?)" "p.(Asn724Ser)" "" "0000808457" "00024760" "50" "1939" "-14" "1939" "-14" "c.1939-14T>C" "r.(=)" "p.(=)" "" "0000808458" "00024760" "30" "1888" "0" "1888" "0" "c.1888G>A" "r.(?)" "p.(Gly630Ser)" "" "0000808459" "00024760" "30" "1735" "0" "1735" "0" "c.1735T>C" "r.(?)" "p.(Ser579Pro)" "" "0000808460" "00024760" "30" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Pro149Leu)" "" "0000855261" "00024760" "50" "1907" "0" "1907" "0" "c.1907A>T" "r.(?)" "p.(Lys636Met)" "" "0000855262" "00024760" "30" "1168" "6" "1168" "6" "c.1168+6C>T" "r.(=)" "p.(=)" "" "0000865657" "00024760" "50" "2621" "0" "2621" "0" "c.2621G>A" "r.(?)" "p.(Cys874Tyr)" "" "0000865658" "00024760" "30" "2223" "0" "2223" "0" "c.2223C>T" "r.(?)" "p.(Ala741=)" "" "0000865659" "00024760" "30" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Leu504Phe)" "" "0000865660" "00024760" "30" "1169" "-7" "1169" "-7" "c.1169-7dup" "r.(=)" "p.(=)" "" "0000865661" "00024760" "30" "1109" "0" "1109" "0" "c.1109C>T" "r.(?)" "p.(Ala370Val)" "" "0000865662" "00024760" "70" "432" "0" "433" "0" "c.432_433del" "r.(?)" "p.(Glu144Aspfs*23)" "" "0000894501" "00024760" "30" "2621" "0" "2621" "0" "c.2621G>T" "r.(?)" "p.(Cys874Phe)" "" "0000894502" "00024760" "50" "2492" "0" "2492" "0" "c.2492C>T" "r.(?)" "p.(Thr831Ile)" "" "0000894503" "00024760" "30" "2443" "-4" "2443" "-4" "c.2443-4G>A" "r.spl?" "p.?" "" "0000894504" "00024760" "30" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Leu504Phe)" "" "0000894505" "00024760" "50" "884" "0" "884" "0" "c.884A>G" "r.(?)" "p.(Asn295Ser)" "" "0000894506" "00024760" "30" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Pro149Leu)" "" "0000894507" "00024760" "30" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Glu94Lys)" "" "0000894508" "00024760" "50" "91" "0" "91" "0" "c.91A>C" "r.(?)" "p.(Ile31Leu)" "" "0000926721" "00024760" "30" "2088" "-10" "2088" "-10" "c.2088-10G>A" "r.(=)" "p.(=)" "" "0000926722" "00024760" "10" "590" "6" "590" "6" "c.590+6A>G" "r.(=)" "p.(=)" "" "0000926723" "00024760" "30" "359" "0" "359" "0" "c.359C>A" "r.(?)" "p.(Thr120Asn)" "" "0000926724" "00024760" "30" "192" "17" "192" "17" "c.192+17A>G" "r.(=)" "p.(=)" "" "0000930947" "00024760" "30" "435" "0" "435" "0" "c.435A>G" "r.(?)" "p.(Thr145=)" "" "0000930948" "00024760" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(His49=)" "" "0000951117" "00024760" "30" "2442" "17" "2442" "17" "c.2442+17C>T" "r.(=)" "p.(=)" "" "0000951118" "00024760" "50" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Leu504Phe)" "" "0000951119" "00024760" "30" "838" "0" "838" "0" "c.838C>A" "r.(?)" "p.(Arg280=)" "" "0000969375" "00024760" "30" "1939" "-2" "1939" "-2" "c.1939-2del" "r.spl?" "p.?" "" "0000969376" "00024760" "30" "192" "3" "192" "3" "c.192+3G>A" "r.spl?" "p.?" "" "0001042399" "00024760" "30" "2443" "-9" "2443" "-9" "c.2443-9C>T" "r.(=)" "p.(=)" "" "0001042400" "00024760" "50" "2317" "0" "2317" "0" "c.2317G>A" "r.(?)" "p.(Ala773Thr)" "" "0001042401" "00024760" "50" "1427" "0" "1427" "0" "c.1427G>A" "r.(?)" "p.(Gly476Asp)" "" "0001042402" "00024760" "50" "622" "0" "624" "0" "c.622_624del" "r.(?)" "p.(Glu208del)" "" "0001056253" "00024760" "50" "2088" "-10" "2088" "-8" "c.2088-10_2088-8del" "r.(=)" "p.(=)" "" "0001066915" "00024760" "30" "2671" "0" "2671" "0" "c.2671G>A" "r.(?)" "p.(Asp891Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000104476" "0000169310" "0000293108" "0000649797" "0000293109" "0000649798" "0000293110" "0000649799" "0000293111" "0000649800" "0000293112" "0000649801" "0000304647" "0000668146" "0000305752" "0000669440"